McArdle walkers in Wales, August 2022.
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MUSCLE GLYCOGEN STORAGE DISEASE
CLINICAL PRACTICE GUIDELINES DISTRIBUTED
IamGSD is distributing its booklet on the Clinical Practice Guidelines for GSD 5 & 7, which were recently published in Neuromuscular Disorders. We also include a set of our 6 leaflets and the latest Medical Overview booklet. We have so far issued the pack to over 80 clinicians, researchers and other interested parties, including everyone listed in our Directory of Clinicians.
If you know of another clinician with an interest in McArdle’s or Tarui’s, please let us know.
UPDATE ON REN001 PHASE 1B TRIAL
A Reneo Pharmaceuticals, Inc. update included details on their trial in patients with McArdle disease. This showed an adequate safety profile with no serious adverse events. After 12 weeks of treatment, participants showed an average increase of 38.5% in fat oxidation compared to baseline. However, the increase in fat oxidation did not result in major changes in the distance walked during the 12-minute walk test and no corresponding changes in heart rate, fatigue or pain were noted. Reneo does not plan to pursue a Phase 2 study. They will continue to partner with us to further our advocacy and education mission.
THREE NEW LEAFLETS LAUNCHED
We have launched three new leaflets in our series:
At hospital (support for McArdle people and emergency doctors when needing to attend hospital due to an episode of rhabdomyolysis).
At the gym (part of our Training Support package for physical therapists and personal trainers).
At the moment (for McArdle people and their partners).
IAMGSD’S THOUGHTS ARE WITH UKRAINE
Since Russia launched a military invasion of Ukraine on February 24, fighting has caused civilian casualties and pushed over 1m Ukrainians to flee to neighbouring countries. We are particularly concerned for those living with muscle GSDs and the disruptions in healthcare services they are facing. We are also concerned about the physical difficulties these individuals will face as they flee from the war. IamGSD stands in solidarity with the people of Ukraine and with the international community as they continue to support all those affected.
GLOBAL WALKING CHALLENGE
MAY 21st to 27th
An incentive to get moving, with our 9th Global Walking Challenge. Join us in this challenge to walk the length of long distance trails around the world! You join in virtually, walking wherever you are, and sending in your mileage each day. Send us comments and photos as well! We will add the miles all together and tick off some amazing trails. The big challenge is to culminate with finishing the California Coastal Trail at 1931 km (1199 miles).
RARE DISEASE DAY
Help to promote Rare Disease Day, a major international effort to raise awareness of the 7,000 or so rare diseases which affect around 300 million people worldwide. It is held on the last day of February each year. Visit their website for ideas on how you can participate. In particular, this year you can share your story of your rare disease by submitting a brief account via their website.
IAMGSD promotes walking courses to help people improve their condition. These have so far been held in the USA, UK and Germany, with more countries to be included in future.